Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.Y270H
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GLB1

NM_000404.4:p.Y270H

Associated Papers

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Tebani A et al.

Journal of Medical Genetics, 2022

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Tonin R et al.

Scientific Reports, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."